I just ended a 30 minute conversation with Meghan’s adolescent gynecologist.  The fact that she spends 30 minutes on the phone with me speaks to a rare spark of passion for her field, and a genuine desire to help.  These are things we clutch because they are uncommon, and, when they come at all, they are fleeting.

The long and the short of the pathology, which arrived earlier than planned, was that there was no malignant finding.  Yes, you read that right.  No malignant finding. (Insert Happy Dance here…)

And the gratitude for the prayers and positive energy was lifted up.  We truly are always aware of the potential alternatives, regardless of our situation.

But, as is always the case with Meghan, I encourage you to keep reading.  Nothing is ever really simple.  And, as the years go by it seems to get progressively more complicated.

While in fact there was no malignant finding, there was not a purely benign pathology either.  She had “the best type of hyperplasia you’d want to find.”

Except when pressed, the gynecologist admitted that there is no type of hyperplasia that you’d ever want to find in a 12-year-old, and that there should be nothing but normal cells there.

Hmmm.  Hyperplasia. Medicine.net says…. “Hyperplasia: An increase in the number of normal cells in a tissue or an organ. Hyperplasia can represent a precancerous condition.”  And various other sites say the same.  The doctor agreed.  The pathology finding was not “normal,” and therefore it must be treated.

See, hyperplasia, specifically endometrial hyperplasia might be detected in women 3-4 times her age.  It might even be expected in women 5 or 6 times her age.  But, her age is 12.  And none of this is ok.

I pushed her about thinking outside the box, and she reminded me that the entire biopsy WAS thinking outside the box.  Any other teen would have been treated for months or more on hormones.  That could have had epic consequences.

In the short-haul, she gets to heal from an invasive procedure.  In the next week more hormones will be introduced to her body in an attempt to keep the hyperplasia at bay, and most importantly to keep it from progressing.  But, hormones, although commonly used to regulate bleeding, require special care in the case of a young lady with no thyroid, a difficult time balancing the endocrine hormones, an extremely elevated risk of uterine and breast cancer, thanks to the PTEN mutation, AND TWO first degree relatives, with estrogen fed breast cancer.

For now, she keeps her uterus.  And we hold our breath.  We hope that over the next few months things will start to calm down.  And some time in the next 6 months the invasive biopsy will be repeated over again to make sure the hyperplasia is gone or behaving itself.

To Meghan this mimics the process that took place at the beginning of the end of thyroid removal.  We had about 3 years of progressive biopsies before they decided to pull the plug and take it out.  She knows, and agrees, that we will all fight longer and harder for her uterus.  For so many reasons.  But the similarities can’t be overlooked.  Nor can the distressing notion that another body part is misbehaving.

When we were diagnosed in 2011 we were told there would be screenings and monitoring.  We even figured on a few doctors every 6 months.  At one point we dreamed of getting them all into a week in August and a week in February and living a somewhat normal life the rest of the year.

Instead, in Meghan’s life alone there have been 5 surgical procedures in the last 13 months.  Digest that for a minute, because it’s hard to keep track of.

Currently we are monitoring her thyroid levels through blood every 6-8 weeks, visits twice a year, and annual ultrasound to monitor potential regrowth.

We are monitoring her knee where the AVM resides, through twice a year visits to the interventional radiologist and twice a year visits to the orthopedist.  There is an annual MRI.  And two of those procedures in the last 13 months have been for the knee.  Add in surgical follow-up visits, and Physical Therapy.

The dermatologist needs to see her twice a year.  Not because anything has been found on her, but because in addition to me passing the PTEN gene to her, apparently her father and I BOTH have Dysplastic Nevus, a “precancerous” condition where moles have a tendency to become malignant.  Couple that with the almost 10 % melanoma risk Cowden’s patients carry, and in addition to the sunscreen, there are necessary scannings.

There is the gastroenterologist, who became necessary almost two years ago when the use of Celebrex to control the knee AVM started to rot out the GI tract.

And the ENT who was added so he could monitor the larynx to avoid unnecessary endoscopy but gauge improvement from the scary state she was in in May of 2014.

Oh, and the doctor who prescribes the digestive enzymes because they work, and no one else will.

And the pediatrician who doesn’t like to go more than 3 weeks without examining Meghan, who also keeps her on Acyclovir, prophylactically for chronic HSV that recurs on her face.

And, don’t forget the hand surgeon, who we love, (who doesn’t have a hand surgeon on the team?)  who has twice in 3 years removed vascular lesions, one from each palm.  And those surgical follow ups.

Nothing is neat and clean.  Nothing is contained.  Nothing ever fit into those 2 weeks we once dreamed about.  This disease has projectile vomited all over our lives.  And it’s everywhere.  And it’s messy and gross, and we just want to take a hot shower and move on.

Because we haven’t even discussed fitting in MY appointments…

And a full-time job….

And an honor student….

Who is a swimmer….

And a theater buff….

And a community activist in the making…

All after work, and school, into the city, in traffic, and expensive parking lots, in hopes of getting back local in time for practice.

Last week I told Meghan over the Christmas Vacation we would need to see her gyn, and do her knee MRI, and my abdominal sonogram.  She was less than impressed.  The general sentiment is that we don’t get vacations, we get days off from school to go to the doctor.  I can’t argue.

The physical, mental, and social ramifications of this under-funded, “orphan disease” are having a profound effect on the life of my girl, and her mom and dad too.

That is one of the main reasons we work so hard to raise funds and awareness.  Maybe one day…

So tonight, we are grateful.  We are on our knees in gratitude, for the prayers that were lifted on her behalf.  We are thrilled to hear the words, “It’s not malignant,” but we are painfully aware the journey of monitoring another body part has just begun.

So if we are not shouting from the rooftops, please don’t think us ungrateful.  We are not.  We are relieved.  We took our first deep breath in weeks.  But, we did ask Santa for some new body armor, polished and ready for the new challenges PTEN Hamartoma Tumor Syndrome, (Cowden’s Syndrome) are actively placing in our way.

We ask that you continue your prayers, and continue to educate yourself about genetic cancers, orphan diseases and people like us, left to be our own advocates, in a world that isn’t overly concerned with how our story shakes out.

While we are in transit, to and from a lot of places we’d rather not be, we talk a lot.  Most of it is complicated.  But some of it, is quite simply about how a 12-year-old with a vision is going to change the world.

 

Come join us on FEBRUARY 21st as we try to draw attention to Rare and Genetic Diseases! Beating Cowden’s Fundraiser LINK – PLEASE HELP US SPREAD THE WORD!